Collagen VII is a major component of anchoring fibrils, which help anchor the top layer of the skin, the epidermis, to the underlying dermis, and thus strengthen and stabilize the skin. Collagen VII is encoded by the COL7A1 gene, and mutations in the gene can be associated with epidermolysis bullosa (EB). EB is a group of genetic conditions associated with skin fragility and blistering. Blisters and skin erosions often form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows; while severe cases can involve widespread blistering that can lead to various complications including vision loss, disfigurement, and other serious medical problems.
COL7A1 mutations associated with DEB impair both collagen VII expression and the ability of collagen VII to form anchoring fibrils. The level of collagen VII expression correlates with the severity of DEB disease with lower collagen VII expression associated with a more severe disease phenotype. Thus methods to accurately detect and/or quantitate the level of collagen VII expression in biological samples would be advantageous for use both in humans as a diagnostic and prognostic index for DEB and in monitoring or evaluating DEB subject response to treatment, as well as in animal and tissue culture models of DEB disease.